Canonical Allele Identifier: CA394568545

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052622140
• MyVariant Identifiers: chr16:g.3807815G>C (hg19) ; chr16:g.3757814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757814G>C , CM000678.2:g.3757814G>C	GRCh38
NC_000016.9:g.3807815G>C , CM000678.1:g.3807815G>C	GRCh37
NC_000016.8:g.3747816G>C	NCBI36
NG_009873.1:g.127307C>G
NG_009873.2:g.127900C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3604C>G MANE Select	ENSP00000262367.5:p.Arg1202Gly
ENST00000262367.9:c.3604C>G	ENSP00000262367.5:p.Arg1202Gly
ENST00000382070.7:c.3490C>G	ENSP00000371502.3:p.Arg1164Gly
ENST00000570939.2:c.2209C>G	ENSP00000461002.2:p.Arg737Gly
NM_001079846.1:c.3490C>G	NP_001073315.1:p.Arg1164Gly
NM_004380.2:c.3604C>G	NP_004371.2:p.Arg1202Gly
XM_005255124.3:c.3559C>G	XP_005255181.1:p.Arg1187Gly
XM_005255125.3:c.3187C>G	XP_005255182.1:p.Arg1063Gly
XM_006720848.2:c.3604C>G	XP_006720911.1:p.Arg1202Gly
XM_011522380.1:c.3550C>G	XP_011520682.1:p.Arg1184Gly
XM_011522381.1:c.2851C>G	XP_011520683.1:p.Arg951Gly
XM_011522382.1:c.3604C>G	XP_011520684.1:p.Arg1202Gly
XM_005255124.4:c.3559C>G	XP_005255181.1:p.Arg1187Gly
XM_005255125.4:c.3187C>G	XP_005255182.1:p.Arg1063Gly
XM_006720848.3:c.3604C>G	XP_006720911.1:p.Arg1202Gly
XM_011522381.2:c.2851C>G	XP_011520683.1:p.Arg951Gly
XM_011522382.3:c.3604C>G	XP_011520684.1:p.Arg1202Gly
XM_017022944.1:c.3598C>G	XP_016878433.1:p.Arg1200Gly
NM_004380.3:c.3604C>G MANE Select	NP_004371.2:p.Arg1202Gly